The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia. [PDF]
J Biol Chem, 2008 Fisher AL, Page KE, Lithgow GJ, Nash L.
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Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I [PDF]
BMC PediatricsBackground Tyrosinemia type I is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH), an enzyme essential for the final breakdown of tyrosine.
Meenakshi B. Ramanna +2 more
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KpnI and RsaI RFLPs for the human fumarylacetoacetate hydrolase (FAH) gene. [PDF]
Nucleic Acids Research, 1991 Sylvie I. Demers, Robert M. Tanguay
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Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker [PDF]
JIMD ReportsHereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi +9 more
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A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay [PDF]
, 2005 Natacha Dreumont +4 more
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Fumarylacetoacetate hydrolase (FAH): a candidate host gene associated with susceptibility to tuberculosis [PDF]
The Journal of Immunology, 2023 Abstract Tuberculosis (TB) disease remains the leading cause of mortality from an infectious disease globally, with an estimated 1.6 million deaths in 2021. TB is caused by infection with Mycobacterium tuberculosis (Mtb), resulting in variable outcomes from asymptomatic latent infection to clinical TB disease.
Josephine F. Reijneveld +6 more
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Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder [PDF]
Orphanet Journal of Rare DiseasesObjective Tyrosinemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This leads to the accumulation of toxic metabolites, resulting in progressive liver and kidney damage.
Nasrin Motazedian +8 more
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Identification of novel antiviral host factors by functional gene expression analysis using in vitro HBV infection assay systems. [PDF]
PLoS ONETo cure hepatitis B virus (HBV) infection, it is essential to elucidate the function of hepatocyte host factors in regulating the viral life cycle. Signaling and transcription activator of transcription (STAT)1 play important roles in immune responses ...
Takuto Nosaka +8 more
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Slow-onset inhibition of fumarylacetoacetate hydrolase by phosphinate mimics of the tetrahedral intermediate: kinetics, crystal structure and pharmacokinetics. [PDF]
Biochem J, 2007 Bateman RL +8 more
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Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias. [PDF]
JIMD RepABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditional diagnostic methods in most cases.
Cyr D, Maranda B, Waters PJ.
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